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Optic atrophy (gene panel)

Genetic test Export to PDF
Full name:
Optic atrophy (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
MLPA based techniques
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
Turnaround time (maximum):
6 months
Document(s):
Created:
17 Dec 2019 - 16:55
Changed:
26 Jun 2023 - 15:31
  • Optic atrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACO2 99.99 1
    AFG3L2 99.97 1
    ATAD3A 99.62 1
    AUH 99.95 1
    C19ORF12 99.99 1
    CISD2 96.27 1
    DNAJC19 99.76 1
    DNAJC30 100.00 1
    DNM1L 99.40 1
    FDXR 99.99 1
    MCAT 99.99 1
    MECR 99.63 1
    MFF 99.97 1
    MFN2 99.98 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    NBAS 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NR2F1 99.99 1
    MED12 99.95 1
    OPA3 100.00 1
    POLG 100.00 1
    RTN4IP1 99.98 1
    SLC25A46 99.88 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SPG7 99.99 1
    SSBP1 100.00 1
    TIMM8A 100.00 1
    TMEM126A 99.88 1
    TSFM 100.00 1
    WFS1 99.99 1
    YME1L1 99.87 1
    ZNHIT3 62.89 1